Brachydactyly type C

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Classification according to ICD-10
Q73.8 Other reduction defects of unspecified extremity (s)
ICD-10 online (WHO version 2019)

The brachydactyly type C is a form of brachydactyly , a very rare congenital malformations of the skeleton with characteristic finger deformity .

Synonyms are: Haws-type brachydactyly

The first description comes from the year 1910 by the French doctor E. Vidal.

The name refers to the author of a description from 1963 by the US doctor D. Virgil Haws.

distribution

The frequency is unknown; only a few affected families have been reported to date. The inheritance is autosomal dominant .

Apparently the disease occurs only in isolation, not in the context of syndromes .

root cause

The disease are mutations in GDF5 - gene on chromosome 20 locus q11.22 based on which permanent cartilage for the morphogenetic protein 1 encoded (CDMP-1).

The same gene is also changed in the Hunter-Thompson (AMDH) and Grebe (AMDG) types, probably also in the brachydactyly type A1 (BDA1C) and type A2 (BDA2).

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on clinical and radiological findings.

Differential diagnosis

Other forms of brachydactyly such as brachydactyly type A4 (Temtamy) and Catel-Manzke syndrome must be differentiated .

literature

  • L. Travieso-Suárez, A. Pereda, J. Pozo-Román, G. Pérez de Nanclares, J. Argente: Braquidactilia tipo C debida a mutación de parada en el gen GDF5. In: Anales de pediatria. Volume 88, Number 2, February 2018, pp. 107-109, doi: 10.1016 / j.anpedi.2017.03.001 , PMID 28391997 .
  • I. Ghozlani, R. Niamane: Anomalie osseuse rare: brachydactylie non syndromique de type C. In: The Pan African medical journal. Volume 25, 2016, p. 220, doi: 10.11604 / pamj.2016.25.220.11227 , PMID 28292173 , PMC 5326197 (free full text).
  • K. Stange, CE Ott, M. Schmidt-von Kegler, G. Gillesen-Kaesbach, S. Mundlos, K. Dathe, P. Seemann: Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? In: Journal of human genetics. Volume 60, number 8, August 2015, pp. 419-425, doi: 10.1038 / jhg.2015.48 , PMID 25994865 .
  • BE Gutiérrez-Amavizca, AJ Brambila-Tapia, CI Juárez-Vázquez, M. Holder-Espinasse, S. Manouvrier-Hanu, F. Escande, P. Barros-Núñez: A novel mutation in CDMP1 causes brachydactyly type C with "angel- shaped phalanx ". A genotype-phenotype correlation in the mutational spectrum. In: European journal of medical genetics. Volume 55, number 11, November 2012, pp. 611-614, doi: 10.1016 / j.ejmg.2012.07.004 , PMID 22828468 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d Brachydactyly type C. In: Orphanet (database for rare diseases).
  3. ↑ E. Vidal: brachydactylous symmétrique et autres anomalies osseuses héréditaires depuis plusieures généerations. In: Bulletin de l'Academie de Médicine (Paris) 58, p. 632.
  4. ^ DV Haws: Inherited brachydactyly and hypoplasia of the bones of the extremities. In: Annals of Human Genetics. Volume 26, February 1963, pp. 201-212, PMID 13953230 .
  5. ↑ a b Brachydactyly, type C.  In: Online Mendelian Inheritance in Man . (English)

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